Inherited Retinal Degenerations (IRDs) are devastating retinal photoreceptor degenerations, leading to complete blindness. Almost 6 million people around the world have IRDs and carry mutations in one of over 300 retinal genes. Twenty genes are commonly mutated, others are rare. It took over 20 years to identify all these genes, and we will illustrate in this talk how to discover new retinal genes and how to prove that they cause IRDs. Our most recent discoveries are NMNA1 and BCOR. 

Dr. Robert Koenekoop (Rob) was born in Stockholm, Sweden, but went to high school and the University of Utrecht in the Netherlands. After bachelor’s and Master’s degrees in Biology, Vegetation Science and Population Biology, a Fulbright fellowship from Amsterdam brought him to the USA for a PhD in Molecular Biology. His wife then brought him to Quebec, Canada and Medical school studies at the University of Toronto and McGill University followed. He saw the light in the retina clinic and finished his residency in Ophthalmology at McGill and his Ocular Genetics and Paediatric Ophthalmology Fellowships at Johns Hopkins University.